Novel mutations in IBA57 are associated with leukodystrophy and variable clinical phenotypes-Reference-Cited by-同舟云学术

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Novel mutations in IBA57 are associated with leukodystrophy and variable clinical phenotypes

Published:2016-10-26 Issue:1 Volume:264 Page:102-111
ISSN:0340-5354
Container-title:Journal of Neurology
language:en
Short-container-title:J Neurol

Author:

Torraco Alessandra,Ardissone Anna,Invernizzi Federica,Rizza Teresa,Fiermonte Giuseppe,Niceta Marcello,Zanetti Nadia,Martinelli Diego,Vozza Angelo,Verrigni Daniela,Di Nottia Michela,Lamantea Eleonora,Diodato Daria,Tartaglia Marco,Dionisi-Vici Carlo,Moroni Isabella,Farina Laura,Bertini Enrico,Ghezzi Daniele,Carrozzo Rosalba

Funder

Fondazione Telethon

Ministero della Salute

Publisher

Springer Science and Business Media LLC

Subject

Clinical Neurology,Neurology

Link

http://link.springer.com/content/pdf/10.1007/s00415-016-8312-z.pdf

Reference30 articles.

1. Vanderver A, Prust M, Tonduti D et al (2015) Case definition and classification of leukodystrophies and leukoencephalopathies. Mol Genet Metab 114:494–500

2. Morató L, Bertini E, Verrigni D et al (2014) Mitochondrial dysfunction in central nervous system white matter disorders. Glia 62:1878–1894

3. Dallabona C, Abbink TE, Carrozzo R et al (2016) LYRM7 mutations cause a multifocal cavitating leukoencephalopathy with distinct MRI appearance. Brain 139:782–794

4. Taft RJ, Vanderver A, Leventer RJ et al (2013) Mutations in DARS cause hypomyelination with brain stem and spinal cord involvement and leg spasticity. Am J Hum Genet 92:774–780

5. Dallabona C, Diodato D, Kevelam SH et al (2014) Novel (ovario) leukodystrophy related to AARS2 mutations. Neurology 82:2063–2071

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1. Phenotypic spectrum of iron-sulfur cluster assembly gene IBA57 mutations: c.286 T > C identified as a hotspot mutation in Chinese patients with a stable natural history;Journal of Human Genetics;2024-09-03

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3. Phenotypic spectrum of iron-sulfur cluster assembly gene IBA57 mutations: c.286T>C identified as a hotspot mutation in Chinese patients with a stable natural history;2024-02-21

4. A comprehensive study of mutation and phenotypic heterogeneity of childhood mitochondrial leukodystrophies;Brain and Development;2023-12

5. Clinical, radiological, biochemical and molecular characterization of a new case with multiple mitochondrial dysfunction syndrome due to IBA57: Lysine and tryptophan metabolites as potential biomarkers;Molecular Genetics and Metabolism;2023-09

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